Canonical Allele Identifier: CA1108463238
Gene: CNTNAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1799538486
gnomAD v3: 7-147882541-G-A
gnomAD v4: 7-147882541-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147882541G>A , CM000669.2:g.147882541G>A GRCh38
NC_000007.13:g.147579633G>A , CM000669.1:g.147579633G>A GRCh37
NC_000007.12:g.147210566G>A NCBI36
NG_007092.2:g.1771181G>A
NG_007092.3:g.1771541G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.2099-21024G>A MANE Select ENSP00000354778.3:n.2099-21024G>A
ENST00000636870.1:n.1961-21024G>A
ENST00000637825.1:n.1582-21024G>A
ENST00000361727.7:c.2099-21024G>A ENSP00000354778.3:n.2099-21024G>A
ENST00000455301.2:n.34-21024G>A
ENST00000627772.2:n.272-21024G>A
NM_014141.5:c.2099-21024G>A NP_054860.1:n.2099-21024G>A
XM_006715919.1:c.587-21024G>A XP_006715982.1:n.587-21024G>A
NM_014141.6:c.2099-21024G>A MANE Select NP_054860.1:n.2099-21024G>A
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